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American Journal of Respiratory and Critical Care Medicine
|
January 19, 2017
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis
Slavé Petrovski, Jamie L Todd, Michael T Durheim, et al.
Genetic Epidemiology
|
November 30, 2007
Summary of contributions to GAW15 Group 13: candidate gene association studies
Mariza de Andrade, Andrew S Allen, Dimitru Brinza, et al.
American Journal of Human Genetics
|
July 26, 2016
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
Michael S Hildebrand, Nicole G Griffin, John A Damiano, et al.
The New England Journal of Medicine
|
August 14, 2020
Causal Genetic Variants in Stillbirth
Kate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2024
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
M Makenzie Beaman, Weining Yin, Amanda J Smith, et al.
Human Genomics
|
July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Evin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.
Annals of Neurology
|
April 22, 2018
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
The EMBO Journal
|
November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
Vandana Shashi, Maria M Magiera, Dennis Klein, et al.
Science (New York, N.Y.)
|
February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 101) with videos related to
Sort By:
Page
of 11
American Journal of Respiratory and Critical Care Medicine
|
January 19, 2017
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis
Slavé Petrovski, Jamie L Todd, Michael T Durheim, et al.
Genetic Epidemiology
|
November 30, 2007
Summary of contributions to GAW15 Group 13: candidate gene association studies
Mariza de Andrade, Andrew S Allen, Dimitru Brinza, et al.
American Journal of Human Genetics
|
July 26, 2016
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
Michael S Hildebrand, Nicole G Griffin, John A Damiano, et al.
The New England Journal of Medicine
|
August 14, 2020
Causal Genetic Variants in Stillbirth
Kate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2024
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
M Makenzie Beaman, Weining Yin, Amanda J Smith, et al.
Human Genomics
|
July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Evin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.
Annals of Neurology
|
April 22, 2018
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
The EMBO Journal
|
November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
Vandana Shashi, Maria M Magiera, Dennis Klein, et al.
Science (New York, N.Y.)
|
February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
Page
of 11